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rs28938473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28938473(C;T)
Make rs28938473(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94007731
GeneABCA4
is asnp
is mentioned by
dbSNPrs28938473
ebirs28938473
HLIrs28938473
Exacrs28938473
Varsomers28938473
Maprs28938473
PheGenIrs28938473
hapmaprs28938473
1000 genomesrs28938473
hgdprs28938473
ensemblrs28938473
gopubmedrs28938473
geneviewrs28938473
scholarrs28938473
googlers28938473
pharmgkbrs28938473
gwascentralrs28938473
openSNPrs28938473
23andMers28938473
23andMe allrs28938473
SNP Nexus

SNPshotrs28938473
SNPdbers28938473
MSV3drs28938473
GWAS Ctlgrs28938473
GMAF0.002755
Max Magnitude0
OMIM601691
DescFUNDUS FLAVIMACULATUS
Variant0014
Relatedalso
ClinVar
Risk rs28938473(T;T)
Alt rs28938473(T;T)
Reference rs28938473(C;C)
Significance Pathogenic
Disease Stargardt's disease not provided
Variation info
Gene ABCA4
CLNDBN Stargardt's disease not provided
Reversed 1
HGVS NC_000001.10:g.94473287G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008346.2, RCV000085773.4,